G Jean

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

Margaret Town, G Jean, Stéphanie Cherqui et al. · Nature Genetics · 1998 · 637 citations

Integral Membrane Protein, Protein Secretion, Nephropathic Cystinosis +10

Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes [published erratum appears in Hum Mol Genet 1997 Apr;6(4):650]

Lothar Károlyi, Martin Konrad, Arnold Köckerling et al. · Human Molecular Genetics · 1997 · 190 citations · Full text

Electrolyte Disorder, Genetics, Renal Pathology +19

Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin

Marlene Attard, G Jean, Lionel Forestier et al. · Human Molecular Genetics · 1999 · 148 citations · Full text

Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis

Arno Fuchshuber, G Jean, Olivier Gribouval et al. · Human Molecular Genetics · 1995 · 134 citations

Molecular Characterization of CTNS Deletions in Nephropathic Cystinosis: Development of a PCR-Based Detection Assay

Lionel Forestier, G Jean, Marlene Attard et al. · The American Journal of Human Genetics · 1999 · 96 citations · Full text

Urology, Nephropathic Cystinosis, Ctns Deletions +6